Sandhoff disease (SD) is a form of GM2 gangliosidosis in
humans that is untreatable and fatal by 5 years of age.Thee feline SD model has the same subunit
mutation as Sandhoff patients.AAV2/rh8 vectors expressing feline hexosaminidase subunits were
injected bilaterally into the thalamus and deep cerebellar nuclei of SD
cats.MR images and Magnetic Resonance
Spectroscopy (MRS) data were acquired on a 3 Tesla MAGNETOM Verio scanner.
Untreated SD cat shows gray:white matter inversion and elevations of brain
metabolites.Gene replacement in the
feline SD model results in restoration of both brain architecture and
metabolites.